Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610646 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2orf70 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||||||||
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Global
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Caucasian
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba)
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SAS
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Japanese
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JPT (Japanese)
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AFR
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Chinese
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CHB (Han Chinese)
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EUR
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AMR
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C2orf70 - chromosome 2 open reading frame 70 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105519.2 | 596 | Intron | NP_001098989.1 | |||
NM_001322426.1 | 596 | Intron | NP_001309355.1 | |||
XM_011532810.2 | 596 | Intron | XP_011531112.1 | |||
XM_011532811.2 | 596 | Intron | XP_011531113.1 | |||
XM_017003962.1 | 596 | Intron | XP_016859451.1 | |||
XM_017003963.1 | 596 | Intron | XP_016859452.1 | |||
XM_017003964.1 | 596 | Intron | XP_016859453.1 | |||
XM_017003965.1 | 596 | Intron | XP_016859454.1 | |||
XM_017003966.1 | 596 | Intron | XP_016859455.1 |
CIB4 - calcium and integrin binding family member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001029881.2 | 596 | Missense Mutation | CAC,CGC | H,R 181 | NP_001025052.1 | |
XM_011532514.2 | 596 | Missense Mutation | CAC,CGC | H,R 197 | XP_011530816.1 | |
XM_011532517.2 | 596 | Missense Mutation | CAC,CGC | H,R 183 | XP_011530819.1 | |
XM_017003329.1 | 596 | Missense Mutation | CAC,CGC | H,R 158 | XP_016858818.1 | |
XM_017003330.1 | 596 | Missense Mutation | CAC,CGC | H,R 136 | XP_016858819.1 | |
XM_017003331.1 | 596 | Intron | XP_016858820.1 |